Gabrielle

“Exactly two weeks before my baby is due to be delivered by C-section, I head to the hospital to collect my DNA test results. Appointments are running late, so my husband and I have to hang out in the waiting room for a while. My husband leafs through magazines while I crochet a baby blanket, and we snicker at an ‘Alan Partridge: Style Icon’ feature in the Sunday Times. Alan Partridge’s clothes look as though they have been lifted directly from my dad’s wardrobe. It’s actually a little uncanny. I snap a picture to WhatsApp my brother. (Sorry, Dad!)

 

While we wait, I go over everything in my head. In the lead-up to this appointment I have been stressing more and more about whether my pregnancy will compromise the accuracy of the test results. I suffer from anxiety and I’m prone to overthinking and catastrophising. I’m worried the lab might somehow accidentally test the baby’s cell-free DNA which is in my bloodstream, rather than testing my own DNA. Of course, if the results are positive then I have to have the BRCA2 mutation anyway – the baby could not have the fault without me having passed it on. But if the result is negative (normal)… What if that’s just the baby’s result? And what if I haven’t passed the mutation on to them but I still have it myself? What if I get sent home being told everything is hunky-dory, and then die of an undetected cancer in a few years’ time? (I’m a big what-iffer. See: catastrophising.)

 

In our last appointment, the consultant had promised to ask the lab about the possibility of a DNA mix-up between myself and my baby. True to her word, she has kindly forwarded me an email (with a diagram!) from her colleague which explains how highly unlikely this is. Unfortunately, all I have latched on to in this explanation is the word ‘unlikely’. Unlikely does not mean impossible!

After a lot of googling and badgering of anyone I know with a scientific background (my husband, our friends, the retired scientist who runs my son’s playgroup…) I emailed Hannah for help. She sent a reassuringly detailed email back, which I shall precis here in case anyone has come across this blog entry because they are googling about the same thing. (You can skip this next bit if you don’t feel the need to know the scientific nitty-gritty):

 

‘Fetal DNA is ‘cell-free’ and floating in the plasma; whereas the DNA that would be extracted for your test is contained within your white blood cells, which are first compacted into a pellet. So the DNA is coming from two physically different parts of the sample, and also the DNA is in different forms. However Emma has been cautious and acknowledged that a trace of fetal DNA could still be found in the cell pellet (hence saying ‘highly unlikely’ rather than absolutely no chance).

However, we start with the whole DNA from the person, and then use an amplification technique to just make copies of the section of DNA we are interested in – in your case, part of the BRCA2 gene. The test then involves ‘reading’ through the many copies and identifying the sequence. Typically we can have hundreds, even thousands of reads of DNA per test. We need to have that many copies of the sequence so we can be confident we have got the right result. So even if some fragments of the baby’s DNA did manage to be included in your sample, the chance that those fragments would include the BRCA2 gene, and the particular part of the BRCA2 gene that we are interested in looking in, is exceptionally low (as we each have about 6 billion letters in our genetic code, and the test is only looking at a region of about 30-50 base pairs) and even then, the quantity of the fetal DNA would be so low in the sample that the signal would be ‘drowned out’ by your own germline DNA when it came to analysing all the reads.

So we are confident that the test result will be called accurately and there won’t be a confusion between your result and any information from the baby.’

 

This explanation from Hannah has helped put my mind at rest, but if I’m honest I’m still a little bit jittery about whether I can ‘trust’ the test. I recognise that this is my anxiety speaking, but I can’t help it. I like to deal in absolutes, and I’m not 100% convinced this result will be an absolute (mainly because I don’t 100% understand all the science – the amplification technique, for example). I just hope that if I get told that my BRCA2 gene is normal that I will be able to accept that this is true, and then relax and enjoy the rest of my lovely normal life.

 

Eventually, Hannah comes out to collect us from the waiting room and I stuff my crochet into my bag. I can’t help but try to gauge the results of the test from the way she greets us. At first she seems rather sober, but then she cracks a little joke about the fact that the consultant sent a letter after the last appointment addressed to ‘Gabrielle and David’ (not my husband’s name). Of course, there’s no way that I can tell from this whether the news is good or bad. My mind is flicking from one possibility to the other as rapidly as a strobe light: I have it, I don’t have it; I have it, I don’t have it.

We sit down in her office and she asks whether we would like to discuss anything first, or whether she should just go ahead and give us the test results.

‘Results, please,’ I say. No point in stringing it out, after all.

‘Okay,’ she says. ‘Gabbie, I’m sorry to tell you that you have the same BRCA2 alteration as your mum.’

I don’t know if I was expecting this or not. I don’t feel shocked, exactly. I laugh a bit. ‘I guess this answers my question about whether or not I can be sure about the test result,’ I say.

I can’t remember now, writing this less than four months later, how the next bit of the conversation goes. All I know is that at some point Hannah passes me a tissue because my eyes have gone a bit leaky. I don’t feel like I’m crying exactly, but the tears are coming anyway – like my body thinks I should be crying and is just getting on with it for me.

My husband has a question for Hannah. He wants to know whether we can get our children tested to see if I have passed the gene alteration on to them. I already know the answer to this: we can’t. They can choose whether or not to be tested when they reach the age of 18. If we had them tested, then we would be taking away their right to choose. There is nothing that can be done while they are children anyway, so there is no medical benefit to knowing whether or not they have the BRCA2 gene until they reach adulthood. We’ve just got to live with the uncertainty for now. Hannah reminds me that I am eligible for enhanced surveillance for breast cancer, meaning annual MRIs from the age of 30, but that this will not be possible while I am pregnant or breastfeeding. The genetics team have already contacted the breast clinic to ask when my MRI screening can start, and they have responded that I need to wait 6-8 weeks after I’ve finished breastfeeding. I ask again about how long I should breastfeed, and like the consultant, Hannah is unwilling to put a timeframe on this, encouraging me to breastfeed for as long as I want. Although she adds, ‘If you were thinking about feeding for, say, two years, then we might suggest you reconsider.’

 

Hannah then brings up risk-reducing breast surgery. She already knows I want to do this, but like the consultant, she seems to think that I might want to delay a referral until my children are perhaps a little older and don’t need lifting. I’m adamant though: I want a referral right away. It will be years until my kids don’t need lifting at all, and I’m not waiting years. Yes, it will be a bit tricky around the time of the surgery, but I live with my in-laws and I have people who will rally round me. We’ll work it out. Based on this conversation, Hannah agrees to make a surgical referral immediately.

We go on to talk about managing the risk of ovarian cancer. There is no reliable screening available for ovarian cancer, so the best option is to have my ovaries and fallopian tubes removed (salpingo-oophorectomy). This will be after I turn 40, as there is no history of early ovarian cancer in the family that I am aware of.

Hannah tells me that there is a local BRCA support group and she agrees to pass my details on to them. Their next scheduled meeting happens to be the date of my planned C-section, so I will be unable to attend, but I am glad to hear that there is support available and I look forward to being able to meet other people in my position. And with that, I am discharged from the Genetic Clinic – although Hannah makes sure I know that I can contact her at any time in the future. My husband and I walk out of the hospital holding hands. I’m okay. He’s okay, I think. We drive home. There’s a lot to process, and it’s daunting, but my overwhelming feeling is simply one of gratitude.

 

Somewhere in the mess of this journey, I sought counsel from a friend of mine who is not only wise and lovely, but who also happens to be a GP. She said the following to me: ‘You can’t change your make-up. You’ve got it now or you haven’t, the only difference is that once you’ve taken the test, you will know. And if you know, then it will actually open you up to being less at risk.’ I hold on to her words now. I’ve always had this BRCA2 mutation. It’s been there since the moment I was conceived, ticking away. A potential time bomb. Taking this test hasn’t given me a breast cancer gene – it’s simply revealed to me what has been there all along. And in so doing, it has empowered me to take action.

 

I am lucky. I’m so lucky, it’s ridiculous. Science has not only read me the fate written in my DNA – it’s also allowing me to have a bash at changing the ending.”